Biochemical Genetics最新文献_第8页

Decoding the Transcriptional Complexity of the Human BRCA2 DNA Repair Gene Using Hybrid-seq. 使用Hybrid-seq解码人类BRCA2 DNA修复基因的转录复杂性。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-10 DOI: 10.1007/s10528-025-11180-6

Panagiotis G Adamopoulos, Michaela A Boti, Konstantina Athanasopoulou, Panagiotis Tsiakanikas, Glykeria N Daneva, Andreas Scorilas

{"title":"Decoding the Transcriptional Complexity of the Human BRCA2 DNA Repair Gene Using Hybrid-seq.","authors":"Panagiotis G Adamopoulos, Michaela A Boti, Konstantina Athanasopoulou, Panagiotis Tsiakanikas, Glykeria N Daneva, Andreas Scorilas","doi":"10.1007/s10528-025-11180-6","DOIUrl":"https://doi.org/10.1007/s10528-025-11180-6","url":null,"abstract":"BRCA2 plays a pivotal role in DNA repair and tumor suppression, with its dysregulation linked to breast and gynecological cancers. Despite the importance of BRCA2, its transcriptional complexity remains poorly understood due to the gene's size and intricate alternative splicing patterns. This study aims to comprehensively characterize the BRCA2 transcriptional landscape in breast, ovarian, and cervical cancers using a hybrid sequencing approach. A novel hybrid-seq method combining long-read nanopore sequencing and short-read NGS was applied to analyze BRCA2 transcripts from cancerous cell lines. Expression patterns were evaluated using the transcript-per-million (TPM) normalization method, and open reading frames (ORFs) of the identified transcripts were in silico characterized. Sequencing analysis led to the identification of 50 novel splice variants (BRCA2 sv.7-sv.56), expanding the known transcript repertoire of BRCA2 gene. Notably, transcript variants sv.9, sv.15, and sv.49 exhibited significant expression in breast and ovarian cancers, while others, such as sv.29 and sv.40, were specific to individual cancer types. Five cryptic exons (N1-N5) were unveiled, contributing to 10 unique splice variants. In silico analysis revealed that 19 novel transcripts retained coding potential, with some encoding BRCA2 isoforms harboring key functional domains. The identification of novel BRCA2 transcripts underscores the complexity of its regulation in cancer. These findings provide insights into the gene's potential role in tumorigenesis and highlight candidates for targeted therapies and diagnostic biomarkers.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Role and Mechanism of CircCOG5 in Regulating Ferroptosis in Ovarian Cancer Cells by Targeting miR-532-3p/LPCAT3. CircCOG5靶向miR-532-3p/LPCAT3调控卵巢癌细胞铁下垂的作用及机制

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-10 DOI: 10.1007/s10528-025-11183-3

Yongfeng Guo, Min Wei, Jingjing Fan, Yulan Wang, Jing Shi, Jie Wang, Na Lu, Yuping Suo

{"title":"The Role and Mechanism of CircCOG5 in Regulating Ferroptosis in Ovarian Cancer Cells by Targeting miR-532-3p/LPCAT3.","authors":"Yongfeng Guo, Min Wei, Jingjing Fan, Yulan Wang, Jing Shi, Jie Wang, Na Lu, Yuping Suo","doi":"10.1007/s10528-025-11183-3","DOIUrl":"https://doi.org/10.1007/s10528-025-11183-3","url":null,"abstract":"This study investigated the regulatory role of CircCOG5 in the ferroptosis of ovarian cancer cells via the miR-532-3p/LPCAT3. The effects of CircCOG5 expression on proliferation, apoptosis, invasion, migration, oxidative stress, and ferroptosis of OVCAR-3 and SKOV3 cells were evaluated. CircCOG5 was lowly expressed in ovarian cancer tissues. Overexpression of CircCOG5 inhibited the proliferation, invasion, and migration of OVCAR-3 and SKOV3 cells, promoted cell oxidative stress, and aggravated apoptosis and ferroptosis. Dual luciferase assays confirmed the targeted regulation of CircCOG5 on miR-532-3p, with LPCAT3 identified as a direct target of miR-532-3p. Overexpression of CircCOG5 increased LPCAT3 expression by decreasing miR-532-3p expression in OVCAR-3 and SKOV3 cells, thereby promoting apoptosis, oxidative stress, and ferroptosis in OVCAR-3 and SKOV3 cells. Overexpression of miR-532-3p reversed the effect of overexpression of CircCOG5 on the proliferation, apoptosis, oxidative stress and ferroptosis of OVCAR-3 and SKOV3 cells. LPCAT3 overexpression antagonized the effects of miR-532-3p overexpression on the proliferation, apoptosis, oxidative stress, and ferroptosis of OVCAR-3 and SKOV3 cells. These findings suggested that CircCOG5 could modulate the ferroptosis of OVCAR-3 and SKOV3 cells through targeting regulation of miR-532-3p/LPCAT3.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring Genetic Diversity in a Core Collection of Aegilops tauschii Coss. Populations Using iPBS and SCoT Markers. 黄花盾核心群遗传多样性的研究。使用iPBS和SCoT标记的人群。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-09 DOI: 10.1007/s10528-025-11178-0

Hoda Moradkhani, Alireza Pour-Aboughadareh, Bita Jamshidi, Omid Jadidi, Ali Ashraf Mehrabi, Aras Türkoğlu, Jan Bocianowski

{"title":"Exploring Genetic Diversity in a Core Collection of Aegilops tauschii Coss. Populations Using iPBS and SCoT Markers.","authors":"Hoda Moradkhani, Alireza Pour-Aboughadareh, Bita Jamshidi, Omid Jadidi, Ali Ashraf Mehrabi, Aras Türkoğlu, Jan Bocianowski","doi":"10.1007/s10528-025-11178-0","DOIUrl":"https://doi.org/10.1007/s10528-025-11178-0","url":null,"abstract":"Evaluation of population structure and genetic diversity is one of the primary steps in any plant breeding program. Wheat (Triticum aestivum L.) is a key staple cereal crop that plays an important role in global food security. The development of improved wheat varieties and the broadening of their genetic base depends on identifying novel allelic variations within germplasm resources. Hence, this study aimed to analyze the genetic diversity and population structure of 111 selected Aegilops tauschii Coss. accessions-the donor of the D-genome in bread wheat-collected from different countries, using Start Codon Targeted (SCoT) and inter-Primer Binding Site (iPBS) molecular markers. Ten selected primers from the SCoT and iPBS marker systems amplified a total of 108 and 147 fragments, respectively. Key informativeness parameters, including the number of polymorphic fragments (NPF), polymorphic information content (PIC), marker index (MI), and resolving power (Rp), were estimated as 10.80/14.70, 0.38/0.41, 4.12/6.13, and 12.90/16.31 for SCoT and iPBS primers, respectively. Analysis of molecular variance (AMOVA) indicated that genetic variation within regions was greater than variation among them. Among the studied populations, those from Iran and Afghanistan exhibited the highest levels of genetic diversity. Multivariate analyses showed that grouping patterns largely corresponded to the geographical origins of the accessions. These results were further validated by population structure analysis, which confirmed distinct genetic classifications based on SCoT, iPBS, and combined marker data. In conclusion, our results highlight that the combining SCoT and iPBS markers can be a robust approach for genotyping and assessing genetic diversity in plant germplasms. These insights are valuable for wheat breeding programs, aiding in the identification and utilization of diverse germplasm and managing it for crop improvement.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

miR-574-3p Regulates Smad/Snail Signaling to Promote Epithelial-Mesenchymal Transition in Nasopharyngeal Carcinoma Cells. miR-574-3p调节Smad/Snail信号通路促进鼻咽癌细胞上皮-间质转化

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-09 DOI: 10.1007/s10528-025-11182-4

Ping Ai, Wei Qu, Xianbing Peng, Yi Zeng

{"title":"miR-574-3p Regulates Smad/Snail Signaling to Promote Epithelial-Mesenchymal Transition in Nasopharyngeal Carcinoma Cells.","authors":"Ping Ai, Wei Qu, Xianbing Peng, Yi Zeng","doi":"10.1007/s10528-025-11182-4","DOIUrl":"https://doi.org/10.1007/s10528-025-11182-4","url":null,"abstract":"Epithelial-mesenchymal transition (EMT) is pivotal in the progression and metastasis of nasopharyngeal carcinoma (NPC). MicroRNAs (miRNAs), particularly miR-574-3p, are emerging as critical regulators in these processes. This study examines the role of miR-574-3p in NPC and its relationship with the Smad/Snail signaling pathway. Expression levels of miR-574-3p were analyzed in six NPC tumor tissues and adjacent normal tissues using qRT-PCR. Functional assays, including overexpression and inhibition of miR-574-3p, were conducted in HNE1 cells. Dual-luciferase reporter assays validated the targeting relationship between miR-574-3p and Smad7. EMT-related molecular changes were evaluated by Western blotting and migration assays. miR-574-3p was significantly upregulated in NPC tumor tissues compared to adjacent normal tissues. Overexpression of miR-574-3p promotes proliferation and migration and inhibits apoptosis in HNE1 cells. Moreover, miR-574-3p upregulation inhibited Smad7 and Snail expression, reducing EMT markers (α-SMA and Twist1), while its inhibition had the opposite effects. Dual-luciferase assays confirmed that miR-574-3p directly targets Smad7. This study reveals that miR-574-3p inhibits the EMT process of NPC cells by regulating the Smad/Snail signaling pathway, providing a new potential therapeutic target for the treatment of NPC.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita. 一种新型致病性DKC1变异的鉴定和计算分析

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-09 DOI: 10.1007/s10528-025-11187-z

Namra Asghar, Wardah Sajjad, Muhammad Naeem

{"title":"Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.","authors":"Namra Asghar, Wardah Sajjad, Muhammad Naeem","doi":"10.1007/s10528-025-11187-z","DOIUrl":"https://doi.org/10.1007/s10528-025-11187-z","url":null,"abstract":"Dyskeratosis congenita (DC) is an inherited progressive bone marrow failure disorder caused by defective telomeres maintenance. It is characterized by a triad of mucocutaneous abnormalities (reticulated skin pigmentation, nail dystrophy, oral leukoplakia) and an increased predisposition to cancer. Genetic mutations in fourteen genes causing abnormalities in telomere biology underlying the DC phenotype have been reported. This study aimed molecular investigation of DC segregating in a Pakistani family. We ascertained a four-generation family affected by the DC phenotype. Exome and Sanger sequencing and in silico tools were used to identify and validate pathogenic variant in the affected family. All affected individuals of the family presented with the classical triad of abnormalities and adermatoglyphia. Four out of five patients died from bone marrow failure before forty years of their age. We identified a novel DKC1 missense variant [NC_000023.11:g.154774671C > T, NP_001354.1:p.(Pro409Ser)] co-segregating with the disorder in an X-linked recessive pattern. In silico analyses supported the pathogenicity of the identified variant. Our study expands the DKC1 mutation pool, which would help further comprehend the molecular mechanisms underlying DC. There is a need to emphasize molecular genetic testing in clinical settings in Pakistan to provide early, noninvasive and accurate diagnosis of inherited diseases.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

SELENBP1 Inhibits the Malignant Progression and Radioresistance of Nasopharyngeal Carcinoma Cells Through the KEAP1-NRF2 Signaling Pathway. SELENBP1通过KEAP1-NRF2信号通路抑制鼻咽癌细胞的恶性进展和放射耐药

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-09 DOI: 10.1007/s10528-025-11190-4

Jiadi Dong, Yanghao Hu, Jingjing Chen, Yidong Wu, Jiangyu Yan

{"title":"SELENBP1 Inhibits the Malignant Progression and Radioresistance of Nasopharyngeal Carcinoma Cells Through the KEAP1-NRF2 Signaling Pathway.","authors":"Jiadi Dong, Yanghao Hu, Jingjing Chen, Yidong Wu, Jiangyu Yan","doi":"10.1007/s10528-025-11190-4","DOIUrl":"https://doi.org/10.1007/s10528-025-11190-4","url":null,"abstract":"Radiotherapy is the primary treatment modality for patients with nasopharyngeal carcinoma (NPC); however, radioresistance remains a significant challenge, contributing to treatment failure in over 20% of cases. Therefore, elucidating the mechanisms underlying radioresistance is essential. Although selenium-binding protein 1 (SELENBP1) is known to be dysregulated in various human malignancies, its role in NPC radioresistance has not yet been clarified. In this study, Cell Counting Kit-8 (CCK-8) assays, colony formation assays, Transwell assays, and flow cytometry were performed to investigate the association between SELENBP1 expression and NPC progression and radioresistance. Western blotting was conducted to evaluate the activity of the SELENBP1 and KEAP1-NRF2 signaling pathways. Our results demonstrated that SELENBP1 expression was significantly downregulated in NPC cell lines (CEN-2, 5-8F, HK1, and C666-1). Elevated SELENBP1 expression was inversely associated with NPC cell proliferation, migration, and invasion. Furthermore, SELENBP1 overexpression enhanced the radiosensitivity of NPC cells and synergistically promoted apoptosis following radiation exposure. Mechanistically, SELENBP1 exerted its anti-tumor and radiosensitizing effects by regulating the Kelch-like ECH-associated protein 1 (KEAP1)-nuclear factor erythroid2-related factor 2 (NRF2) signaling pathway. In conclusion, SELENBP1 suppresses NPC cell proliferation, migration, invasion and radioresistance via the KEAP1-NRF2 signaling pathway, suggesting that SELENBP1 could be a potential therapeutic target to enhance the radiosensitivity of NPC.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Circulating Levels of miR-155 and CTBP1-AS2 as a Promising Biomarker for Early Detection of Diabetic Nephropathy. miR-155和CTBP1-AS2的循环水平作为糖尿病肾病早期检测的生物标志物

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-09 DOI: 10.1007/s10528-025-11176-2

Arezoo Rahimi, Shekoofeh Nikooei, Khatere Roozbehi, Davood Semirani-Nezhad, Rozina Abbasi Larki, Arash Arya, Danial Gholami, Behnam Alipoor

{"title":"Circulating Levels of miR-155 and CTBP1-AS2 as a Promising Biomarker for Early Detection of Diabetic Nephropathy.","authors":"Arezoo Rahimi, Shekoofeh Nikooei, Khatere Roozbehi, Davood Semirani-Nezhad, Rozina Abbasi Larki, Arash Arya, Danial Gholami, Behnam Alipoor","doi":"10.1007/s10528-025-11176-2","DOIUrl":"https://doi.org/10.1007/s10528-025-11176-2","url":null,"abstract":"Diabetic nephropathy (DN) is one of the most frequent complications of diabetes mellitus. Since the early diagnosis of DN is crucial to prevent the progression of the disease towards renal failure, many efforts have been made in recent years to introduce new diagnostic biomarkers. Recent studies suggest that non-coding RNAs could act as a novel diagnostic biomarker for the early detection and prediction of DN progress. Accordingly, in the current study we investigated the expression levels of miR-155 and CTBP1-AS2 in type 2 diabetes (T2D), DN patients and control subjects, and evaluated their diagnostic potential for DN. A total of 189 age and sex-matched subjects including 65 T2D patients with normo-albuminuria, 61 DN patients who had a history of albuminuria, and 63 control subjects were included in this case-control study. The expression levels of miR-155 and CTBP1-AS2 were determined using QRT-PCR. The results revealed that the expression level of miR-155 was significantly reduced in T2D patients. In addition, miR-155 level was significantly higher in DN patients with macroalbuminuria compared to DN patients with microalbuminuria and T2D patients with normo-albuminuria. The expression level of CTBP1-AS2 in T2D without proteinuria was higher than DN subjects with macroalbuminuria. The results also showed that there was a significant positive correlation between the miR-155 level with DBP, TG, TC, SCr and, BUN levels and a negative correlation with HDL-C and eGFR values. Deregulation levels of miR-155 and CTBP1-AS2 may represent useful novel diagnostic biomarkers for DN.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Chitinase Gene Belonging to Serratia marcescens GBS19 Reveals Horizontal Gene Transfer within Bacterial Strains Besides its Biocontrol Potential Against Myzus persicae. 粘质沙雷氏菌GBS19几丁质酶基因的水平转移及其对桃蚜的生物防治潜力

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-07 DOI: 10.1007/s10528-025-11172-6

Ahmet Can, Ömür Baysal

{"title":"A Chitinase Gene Belonging to Serratia marcescens GBS19 Reveals Horizontal Gene Transfer within Bacterial Strains Besides its Biocontrol Potential Against Myzus persicae.","authors":"Ahmet Can, Ömür Baysal","doi":"10.1007/s10528-025-11172-6","DOIUrl":"https://doi.org/10.1007/s10528-025-11172-6","url":null,"abstract":"Microorganisms produce diverse enzymes with applications in biological control and pest management. Chitinase enzymes degrade chitin, a structural component of insect exoskeletons and fungal cell walls, offering sustainable and environmentally friendly solutions for agricultural pest and pathogen management. This study focused on the chiA gene from our original strain belonging to Serratia marcescens identified using multi locus sequencing and ribosomal DNA analysis, amplified via PCR, cloned into expression vectors, and expressed as a recombinant protein. The chiA enzyme was purified using His-tag affinity chromatography and showed optimal activity at 40 °C and pH 5. The purified chiA enzyme exhibited strong insecticidal activity against Myzus persicae, with an lethal dose50 of 15.8 ppm. The comparative genomic analysis using MUMMER4 and MAUVE, identified horizontal gene transfer (HGT) events and genomic rearrangements within reference strain and our strain GBS19. The recombinant chiA enzyme exhibited 98.4% similarity with reference chiA sequences, highlighting its evolutionary conservation. Molecular docking studies confirmed a binding affinity of - 5.74 kcal/mol between the enzyme and chitin monomers, supported by interaction studies with modeled chitin layer. In addition, we have also predicted the most variable mutations required for enzyme stability and enzymatic activity enhancement in cloned amino acid sequence using protein AI tool, which will also guide us further studies linked to site-directed mutagenesis. This study demonstrates the potential of S. marcescens chitinase as an effective biocontrol agent against Myzus persicae. It underscores the importance of recombinant DNA technology in sustainable agriculture and sheds light on the evolutionary adaptation of chitinase genes through HGT and mutational events.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Silencing NRBP1 Gene with shRNA Improves Cognitive Function and Pathological Features in AD Rat Model. shRNA沉默NRBP1基因可改善AD大鼠模型的认知功能和病理特征。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-05 DOI: 10.1007/s10528-025-11169-1

Xinxue Wei, Xiaobei Liu, Yunqing Ban, Jing Li, Rong Huang

{"title":"Silencing NRBP1 Gene with shRNA Improves Cognitive Function and Pathological Features in AD Rat Model.","authors":"Xinxue Wei, Xiaobei Liu, Yunqing Ban, Jing Li, Rong Huang","doi":"10.1007/s10528-025-11169-1","DOIUrl":"https://doi.org/10.1007/s10528-025-11169-1","url":null,"abstract":"Alzheimer's disease (AD) is a prevalent neurodegenerative condition in the elderly, characterized by complex pathogenesis, and a current absence of specific treatment. This study aimed to investigate the effectiveness of silencing the NRBP1 gene using siRNA technology to improve cognitive function and pathological features in an AD rat model. An AD rat model was induced by intraperitoneal injections of D-galactose and oral AlCl3 administration over 90 days, thus replicating early-stage AD pathology. The rats were randomly assigned to the Blank control (Blank), AD model (AD), AD model + shRNA negative control (AD + Neg), and AD model + NRBP1-shRNA groups (AD + shRNA), initiating experiments at 30, 60, and 90 days.Cognitive function was assessed through the Morris water maze test, revealing that rats in the AD + shRNA group showed significantly reduced latency, swim time, swim distance, and crossing times compared to the AD and AD + Neg groups (P < 0.05), with no significant difference from the Blank group. Thioflavin-S fluorescence staining demonstrated a significant reduction in the number, average area, and burden of plaques in the hippocampal tissue of the AD + shRNA group compared to the AD and AD + Neg groups (P < 0.05). ELISA assays confirmed a notable decrease in Aβ1-42 levels in the hippocampal tissue of the AD + shRNA group compared to the AD and AD + Neg groups (P < 0.05). Fluorescence quantitative PCR analysis revealed a significant downregulation of NRBP1 gene expression in the hippocampal tissue of the AD + shRNA group (P < 0.05).In conclusion, using siRNA to silence the NRBP1 gene demonstrates potential in enhancing cognitive function and reducing pathological features in an AD rat model. This provides preliminary evidence that justifies further investigation into its mechanistic and therapeutic implications.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144566902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Analysis of miRNA-mRNA Network Regulation Revealed the Mechanism of Different Drugs-Induced Constipation in Mice. miRNA-mRNA网络调控分析揭示不同药物致小鼠便秘的机制。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-07-03 DOI: 10.1007/s10528-025-11164-6

Yu Zhan, Yong Wen, Jing-Hui Qu, Xue-Gui Tang

{"title":"The Analysis of miRNA-mRNA Network Regulation Revealed the Mechanism of Different Drugs-Induced Constipation in Mice.","authors":"Yu Zhan, Yong Wen, Jing-Hui Qu, Xue-Gui Tang","doi":"10.1007/s10528-025-11164-6","DOIUrl":"https://doi.org/10.1007/s10528-025-11164-6","url":null,"abstract":"Functional constipation (FC) is a common disease and high incidence in the digestive system. The pathogenesis of FC has not been thoroughly studied leading to a lack of effective therapeutic drugs. It is necessary to conduct in-depth research with animal experiments. The criteria for judging the success of the model and the method for evaluating the recovery of gastrointestinal function are the keys to animal experimental research on functional constipation. At present, the evaluation of the FC model is mainly based on the observation of defecation, as well as the detection of gastrointestinal transit and motility, which lack research at the genetic level. Therefore, this study chose antibiotic-, loperamide hydrochloride-, and sucralfate-induced FC mice model, and based on the observation of defecation reaction, the tissue changes of FC mice were observed by H&E staining and PAS staining, and then, the serum gastrin (GAS), acetylcholine (ACh), Motilin (MTL), substance P (SP), and vasoactive intestinal peptide (VIP) of FC mice were detected by ELISA. Finally, the effects of the three drugs on miRNAs in FC mice and the underlying mechanisms involved were analyzed by RNA-seq and bioinformatics. In conclusion, from analysis by RNA-seq and bioinformatics, miRNAs may be a factor leading to constipation, calcium-mediated signaling, cellular calcium ion homeostasis, endopeptidase activity, and G protein-coupled serotonin receptor activity were effector molecular function and biological process, and cell adhesion molecules (CAMs) was the effector signaling pathways.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144558649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0